Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008690 | SCV001168469 | pathogenic | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing | The Q698X nonsense variant in the KCNQ2 gene is predicted to cause loss of normal protein function through protein truncation as the last 175 amino acids of the protein are lost. The Q698X variant is not observed in large population cohorts (Lek et al., 2016). |